ArticleClinical oral investigations2019
Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.
Article in Clinical oral investigations, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2025Pooled it
- Beyond the diagnosis: UnravelingThe Japanese dental science review · 2026Review
- FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.Cell proliferation · 2026Article
- A family study of dentinogenesis imperfecta shields type II caused by a novel DSPP mutation and investigations on the isolated stem cells from human exfoliated deciduous teeth.BMC oral health · 2025Article
- Inositol-requiring enzyme 1 alpha is essential for dentinogenesis.Frontiers in physiology · 2025Article
- Long-term haplodeficency of DSPP causes temporomandibular joint osteoarthritis in mice.BMC oral health · 2024Article
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Dental characteristics of patients with four different types of skeletal dysplasias.Clinical oral investigations · 2023Article
- Dentin defects caused by a DsppScientific reports · 2023Article
- Extracellular vesicles from the inflammatory microenvironment regulate the osteogenic and odontogenic differentiation of periodontal ligament stem cells by miR-758-5p/LMBR1/BMP2/4 axis.Journal of translational medicine · 2022Article
- Enamel Matrix Derivative Enhances the Odontoblastic Differentiation of Dental Pulp Stem Cells via Activating MAPK Signaling Pathways.Stem cells international · 2022Article
- Reduced ELANE and SLPI expression compromises dental pulp cell activity.Cell proliferation · 2021Article
- Mouse Dspp frameshift model of human dentinogenesis imperfecta.Scientific reports · 2021Article
- Effects ofGlobal medical genetics · 2021Review
- Dentine sialophosphoprotein signal in dentineogenesis and dentine regeneration.European cells & materials · 2021Review
- Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.Frontiers in physiology · 2021Article
- Haploinsufficiency ofFrontiers in physiology · 2020Article
- Dentinogenesis and Tooth-Alveolar Bone Complex Defects inStem cells and development · 2019Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesDentin sialophosphoprotein (DSPP) plays an important role in the mineralization of both dentin and bones. The Dspp null mice developed periodontal diseases. Patients with DSPP mutations have dentinogenesis imperfecta (DGI), but very little is known about their bone characteristics. This study aims to characterize alveolar bone cells of a DGI patient with DSPP mutation. MATERIALS AND
methodsPathogenic variants were identified by whole exome and sanger sequencing. Cells isolated from the alveolar bones of a DSPP patient were investigated for their characteristics including cell morphology, attachment, spreading, proliferation, colony formation, mineralization, and osteogenic differentiation.
resultsWe identified a Thai family with three members affected with autosomal dominant DGI harboring a heterozygous pathogenic missense mutation, c.50C > T, p.P17L, in exon 2 of the DSPP gene. The patients' phenotypes presented deteriorated opalescent teeth with periapical lesions, thickening of lamina dura, furcation involvement, alveolar bone loss, and bone exostoses. The alveolar bone cells isolated from DSPP patient exhibited compromised proliferation and colony formation. Scanning electron microscope revealed altered cellular morphology and spreading. The DSPP cells showed deviated mRNA levels of OCN, ALP, and COL1 but maintained in vitro mineralization ability compared to the control.
conclusionsWe demonstrate that the DSPP p.P17L mutant alveolar bone cells had compromised cell spreading, proliferation, colony formation, and osteogenic induction, suggesting abnormal bone characteristics in the patient with DGI caused by DSPP mutation. CLINICAL RELEVANCE: DSPP mutation can induce the behavior alterations of alveolar bone cells.
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